MODY10 caused by c.309-314del CCAGCT insGCGC mutation of the insulin gene: a case report.

Objective: This study aims to report the clinical features and gene mutation of a rare MODY10 patient in China.

Methods: This study summarizes the clinical data of a MODY10 child in the Endocrine Department of our hospital and an analysis and discussion of the results of the gene sequencing of the child.

Results: The child was a two-year-old boy.

[Floating-Harbor syndrome: a case report and literature review].

Floating-Harbor syndrome (FHS) is an autosomal dominant genetic disease caused by SRCAP mutation. This article reports the clinical features of a boy with FHS. The boy, aged 11 years and 7 months, attended the hospital due to short stature for more than 8 years and had the clinical manifestations of unusual facial features (triangularly shaped face, thin lips and long eyelashes), skeletal dysplasia (curvature finger), expressive language disorder, and retardation of bone age.